Rough Week

These past few weeks I've been doing a lot of reading on this potential diagnosis. The genetics doctor has been in touch with me a couple times since we met to discuss how confident she is feeling. She was so confident that she felt we shouldn't even go on the diagnostic trip down to the states. Though, in our most recent conversation she is on board because she found how much deeper they are able to go with exome testing and there have been some changes with Layla. One symptom that a lot of kids with this one disorder have, is seizures. A lot of these kids won't necessarily have them at birth but they may develop a little later on. One girl I read about didn't have any until around 2 1/2 and then they just became more regular until her body couldn't take it and she passed away. Very sad, I know. Just on Monday I had been discussing with a friend how I hope Layla doesn't start to have them.

So then on Tuesday Layla was on the couch and I noticed her one eye was twitching. She threw up a couple times that morning but that's not out of the norm for her. Then we went to music therapy. Her eye was more drooping at that point. As usual, when the therapist went to strum her guitar, Layla went to do a big smile. The only issue was only half of her face could smile. It was as though she lost control of the one side of her face. The strange part was it was opposite to the eye issues. We were at Canuck Place so there was a nurse on site, able to come take a look. At first, she thought that Layla was possibly having a stroke and suggested we get to the hospital right away. Thankfully this is right beside one so we walked across the parking lot to the ER, which was completely packed but they took us in right away. Fairly quickly the doctor suggested that Layla was having a series of seizures. They went to take some blood work and I told them how difficult it normally is. They had to do multiple pokes but Layla didn't even react. She just wasn't present anymore. When her paediatrician walked around the corner, on call, I was so thankful I wouldn't have to go through Layla's full history, trying to explain her baseline. She sat beside me and I explained the details of the day. She said she agreed that Layla had most likely been having a cluster of seizures all afternoon. As we were discussing it, I saw Layla's opposite eye start twitching like crazy and then more areas of her face and body. Then she started frothing and throwing up blood. It was horrific to watch. Aaron had left shortly and come back in the middle of this scene. We were both in shock and so scared but survival mode had to set in for the time being. Three nurses were trying to get an IV in anywhere they could (again, not easy), a couple doctors were discussing meds because it wasn't stopping and in fact it was getting worse. They tried dissolving meds orally but she just threw them up. Then they tried to give it through her muscle-still didn't work. Next was a nasal spray. This made her calm down a lot but the body still twitched. Finally the IV was in and they got another seizure/sedative med into her. Slowly but surely, she calmed down and then was completely passed out. This big seizure lasted for over an hour! To put it in perspective, a typical seizure will last 60-90 seconds. 

     We could breathe, at last. 

Layla slept for over 12 hours. (She's never done that in her life). The fear then was, what will she wake up like? It's to be expected that after all the meds and the seizure itself that she would be exhausted. Here we are 3 days later and she's still more lethargic than normal. We spent two nights in hospital. Ran some tests and chatted with some doctors. We decided to just come home with an emergency seizure medication and not put her on regular anti-seizure meds, yet at least. If she has another seizure episode again, we will. The information from our stay will be passed on to the neurologists at BC Children's and we will likely go and meet with them fairly soon to discuss the events and a plan for the future. The good news in this is we might be able to get confirmation on the part of her diagnosis sooner, an the MRI pushed as well. Fingers crossed. 

Today is our first day home and I am completely exhausted. Emotionally and physically. It was just a lot to take in and so hard to watch her not in control of herself. I really hope this isn't going to become a regular thing. I'm incredibly thankful to have Layla home and that she seems herself. How did this happen so quick after we had been discussing this? Why couldn't she just have a 90 second one to start? Why did it have to be all afternoon and that traumatic? Cheers to a quiet, non eventful weekend.. and a glass of wine. 

This is Layla getting the EEG test done. 

Blindsided

Waking up yesterday Layla and I hit the road nice and early to make it in to the hospital for another routine appointment. After a fifteen month wait we were going to see the genetics department. I assumed that they were going to be like every other specialist lately "We don't have anything new, but we'll be interested to see her when you get back from the diagnostic testing in the States." Especially since this was the first time meeting them, I assumed that they were going to just want to hear her history and where she's at today. I was wrong. Well partly. We did go through Layla's history from conception to current. But to my surprise they had two different discoveries from her exome sequencing study we had done last year, that may be a lead to her diagnosis.
I'm not going to write down the two diagnosis' until there is confirmation. But I'm not going to lie, the symptoms described sound a lot like Layla.
**Flash back to last week when we met with the ophthalmologist whom we see every six months. He was puzzled by Layla's vision and mentioned that he doesn't feel like she fits solely into the cortical visual impairment (issues with the communication between the eyes and the brain) "box" because of her nystagmus (eye shaking). He said "I think we could be dealing with a dual diagnosis here". **
Could this be it? Could this be the answers we've been searching for, for over 2 years? 
The uncertainty is still frustrating. I would like some concrete answers. But alas we stay in limbo land. The hardest part of processing this new information is reading the things she will not do with certainty, that there is no cure and of course the short life expectancy. Even though this is something we've been told for a long time.. it's never easy to hear or see it written on paper. If it's all true, it takes away the hope that maybe, just maybe, she could surprise us. In the undiagnosed world I have often thought of the worst but still hold onto a bit of hope because there was no proof.
At least there is some super long title to tell people when they ask, something to research and I can try and connect with others going through the same journey. Perhaps the world will be less lonely. Plus, I've been told that government help steps up with a diagnosis (who knows if that's true when it's still insanely rare). That would be nice though.
With these dual diagnosis' being auto recessive if we were to happen to get pregnant again instead of just being the 1 in 4 chance of recurrence for any possible children.. it would be 1 in 4 chance for each diagnosis. We had assumed that we wouldn't have any more children together but haven't actually taken that option fully away yet. We wanted to wait until the visit to the States. This information would make the decision for us.
The doctor asked that we give her three months to go back into and deeper into the exome sequencing on us all. They will specifically be looking for proof on these two diagnosis'. We have to hope that they won't need more funding because that will stall the timing. Last time we had to wait 6 months for them to apply for $10,000 from the government to get testing done.
This genetic doctor said that with this information coming up, she believes going to the States isn't going to give us the results we are looking for. She thinks that they are the closest to a diagnosis and because we've done so many tests already, there isn't anything new they will be able to find at UCLA. That being said, she was making sure this trip isn't going to be too hard on us. She agreed that nothing bad would come of going. She just didn't want me to go there thinking they will solve everything. And it's true I have held onto this experience very tightly, believing if anyone can figure out a way to help our daughter it would be them.
After mulling it over for the past day and a half, I still want to go. We have been waiting for so long, along with almost all other specialists to see what they have/will find. And I would kick myself if we missed out on any information. Plus it's a paid trip to California so I can't really turn that down. :) I guess I need to just lower my expectations. If anything I will meet some crazy smart people, make some connections and get Layla's second MRI that is still over another year's wait here in Canada.

Negative Nancy

Today is a bit of a negative Nancy day. I'm allowed, right? We just got an x-ray done of Layla's hips for the hip surveillance team at Children's to keep an eye on them and make sure they don't dislocate. Every 6-12 months they will take x-rays to see how they are developing. According to her pediatrician and physiotherapist because she is not putting any weight into her legs there will most likely be hip issues. If they can catch it early there are some less invasive measures they can take to try and avoid surgery. Which would obviously be a better option.
Then spoke with GI specialist about the results from Layla's PH level test. She had a probe placed through her nose and down into her stomach. For 24 hours we monitored how often she puked, coughed- showed signs of reflux, when we had her laying down, more upright etc. The doctor said that she actually showed in the near normal range for reflux. That being said, she is on multiple medications for reflux and so they are obviously working. But why is she still throwing up and gagging throughout the day? What else could be causing this if it's not reflux? Is there something we're doing wrong? 
Ugh. It seems like so many of these medical tests have come back fairly normal with her. Which should be a good thing, right? But to me often, it's not. I feel like I'm just searching for something anything that can give an answer. It's been a while since we learned any new, helpful, information. Multiple specialists now have met Layla, done one or two tests and then discontinued follow up because they didn't find anything that could be explained. Every single test could come back "normal" but obviously, she is not. Anyone can see that. This anger totally stems from living in the undiagnosed world. Will someone just give me some answers and better ways to support her!? Your job as a mom is to do whatever you can to watch and help your child succeed. And I'm incapable of that. I want so badly to help her. There's still this tiny part of me that dreams there is something out there to make Layla like a typical 2 1/2 year old. Some magic pill that will cause her to be able to sit and run, talk and eat. It's a pipedream, I know. But it's there. I think it always will be. No matter how much I love her, as her.
Sort of switching subjects, we did get a call from UCLA about the undiagnosed disease program. They are finalizing the schedule for when we go down there. In the next week or two, they will get back to us with the plans and look into dates that work for everyone. My biggest fear is that we will go there and come back with nothing new. That they will say what so many others have, she is inexplainable. There's nothing to be done and they have no idea what her life may, or may not, look like. And that we will sit, in this unknown. This trip couldn't come soon enough. I need it to come before I give up. This is the last straw. If we don't learn anything new and helpful.. I'm done putting in as much effort as I have in the past 2 years. I won't be able to handle that stress anymore and I'll have to figure out a way to fully come into acceptance.

Look how big she is!? Sporting her new wheelchair, complete with matte purple pieces. 

More bloodwork..

Almost 4 months ago to the day we were told about the possibility of Layla having a mitochondrial disease. We have been waiting since then on funding approval to further look into if this might be where Layla's diagnosis lies. This morning I received a phone call that the funds are now available and we can start down this rabbit trail. Layla and I have to go get, yet again, more bloodwork done next week and this time it will be sent to a lab in Atlanta. Thankfully they are letting us get it done locally so I don't have to do the drive in and out of Vancouver. We will go to the Mission hospital where we had a good overall experience last time (when is bloodwork actually good, with a 2 1/2 year old). Hopefully we can have the same group of ladies helping us out. Last time it was only a matter of 5 minutes before I was able to get the smiles back on Layla's face.. in between sobs.
I'm happy to hear that the biochemical diseases program at BC Children's is still wanting to work with us evening though we've been accepted to the Undiagnosed Disease Network in the states. I had been feeling a bit like we were passed off to someone else and they weren't willing to do any more until we've completed our stay there. So that is encouraging. Any progress is good progress. Whether it is eliminating or discovering.  
Shortly after we were told about the mitochondrial possibility, we started Layla on a few new vitamins to see if they would help give Layla more energy. And I honestly do think they have helped. She had a set back with being sick for an extended period this winter but overall she has had more energetic periods through the day than ever before. She is so much more alert and active. She seems to be recognizing familiar songs, voices and activities.
Yesterday I picked up Layla from a four night respite stay. We took two nights to have a getaway of our own up to Okanagan. It was so relaxing. We visited a few wineries, went snowshoeing and relaxed at the resort that had a bunch of steamrooms, saunas and a gorgeous infinity pool overlooking the lake. We were in bed super early both nights, got an opportunity to work out at the gym, have peaceful, delicious breakfasts. It really was good for us. But the biggest change I noticed for me was that I actually wanted to pick up Layla early. I missed her that much. In the past, I've been so exhausted from caring for her that I longed for that time away. It was such a necessity. But this time, I really wanted to have her back. The van felt empty with out her, the house seemed weird. She is just so much more enjoyable to be around these days. I wish I could've had these feelings a lot earlier on with Layla but either way, I'm thankful for them now. 

Becoming Human

I just finished this book called "Becoming Human" by Jean Vanier. Jean is the founder of L'arche, an international network of communities for people with intellectual disabilities. I highly recommend it for anyone interested in a new perspective on people with disabilities.

"So many people with disabilities are seen by their parents and families only as tragedy. They are surrounded by sad faces, sometime full of pity, sometimes tears. But every child, every person, needs to be celebrated. Only when all of our weaknesses are accepted as part of our humanity can our negative, broken self-images be transformed."

Whoa.. it's so sad but speaking from personal experience, so true.

Sometimes I will feel sorry for myself and all the extra responsibilities it requires to care for Layla. When overwhelmed with appointments and simple tasks made difficult such as having to carry her up and down the stairs, and consistently entertaining her, I get frustrated. It's quite selfish, really. Focusing on how bad this is for me. But lately, it doesn't take long before I have these "a-ha" moments, where I take a step back and look at how far she's come. I'm so thankful for her and her personality. I'm trying really hard to celebrate her on a regular basis. She deserves to be celebrated.

Unlike a typical two year old Layla needs you to present opportunities to her. She is not able to grab your hand and pull you over to the toy she wants to play with. If not given the opportunity she would be fairly content just laying on the couch over your lap, if you acknowledge her every so often and hold her hand. BUT given the opportunity to do more, we are seeing that she is actually quite a bit more capable than you would think. For example; we have sung head and shoulders to her since she was a small baby. I think she enjoys having other people move her limbs for her because it is so difficult to do on her own. In the last month or so, if you go through the first verse -"head and shoulders, knees and toes, knees and toes, knees and toes.." and then stop and wait, we have noticed that sometimes she will start to move her hands up only the slightest, to try and get them up towards her head and let us know she wants to continue. This probably seems so small, but I think it's truly a miracle. At first I really doubted that that was what she was doing (and sometimes I still doubt) but I've begun to decide that it is important for us to encourage and believe in her. What harm is it if I'm incorrect? Maybe it is an involuntary movement. But how encouraging is it when we do believe? Who knows what is going on in her brain development?

I saddened for others who don't get the opportunity to see her in her elements. When she's at home and laughing her head off at my fake cough, or smirking at the wind blowing on her face as she pull the fan from her toy. When she looks you in the eyes and smiles... there is nothing like it. Life has not been easy for her but it's only getting better. With us taking that extra step to think of what we can do to help her communicate and be involved in whatever everyone else is doing I want to see her flourish. May she teach me to love more, have more patience and just be a better human being. 

Watch a movie with her cousin :) 

New Year, new generosity.

Happy New Year. First post of 2017. I'm actually excited for this year. I feel like a lot of good things are going to happen. With 2016 ending fairly positively in our lives, it has given me hope for a season of rest and allowing some hard work to be paid off. Layla has been doing so well lately. Sleep has been fairly consistent with a 6-7 hour chunk at night.. whoot whooot! That alone makes a world of a difference.
Layla has stayed so healthy through this winter, knock on wood it will continue that way. She barely has had colds and NO hospital stays. Last winter, I swear she was sick the whole time.
Next week we're getting trained on a suction machine to have around the house when Layla is choking on her secretions or vomit. This will help take away the stress for her and us when she is struggling to get these liquids out of her mouth and throat. These episodes have been a bit more scary the last couple months.
We have the van in our hands which has been a total life changer. We are so thankful for everyone that has given toward this van. Never will I forget the generosity of others because I will look at the van and know we couldn't have done that on our own. The plan is to pay the van completely off in the next couple months. The Salt Spring Island Driftwood newspaper just printed a story about the need for our van. Plus, the second burger and brew at the end of this month should bring us pretty close.
In other news we were chosen by a family, through Canuck Place, who recently lost their 9 year old son to be given a pretty fancy hospital bed (we're talking $10,000 fancy). Obviously it's horrific what they have been going through in the last couple months... and it hits a little too close to home.. but they are so generous in deciding they would give away his equipment to other families. They said they understand the need and cost involved in raising a special needs child and couldn't imagine trying to make money off of those things. The bed is coming from Kamloops and at first we were quoted $800 to have it delivered by a moving company. Which was really disheartening.. but then she posted on a community site and a company that was coming down for a conference in Vancouver said they would attach their trailer, pick up the bed and deliver it FREE of charge. Wow. Again, communities are amazing. They are dropping off the bed today! Fingers crossed they can get it up all the stairs (we really didn't think that through when we moved in almost a year ago, I mean Layla was so small and light still then). The bed is 250lbs. Another heavy thing to add to our home. But this should only help with sleep. Having the electric incline for the head and foot will help Layla be the best supported through the night and help keep reflux at bay. The mother told me it made the world of a difference for her sons sleep.
Layla is getting a new manual wheelchair in the next couple of weeks.. which will make transportation even easier. Then in a couple of months we will be having the trip to UCLA... I feel like the list keeps going.
I'm feeling some peace and joy in my heart that I haven't had for a while. And oh man, I hope it sticks around. What else will 2017 bring?

Christmas

Three day countdown until Christmas. I have to say I'm the most excited I have been for it in a few years. The last two years, Layla was so much more fragile. She cried so often that we had to take turns rocking her to keep her content. I don't think Aaron and I both got to sit down and enjoy a meal or a full family game at the same time. Our family stepped in to take turns giving her a rock or leg shake to get her to sleep. It was so exhausting. But this year, it's going to be so different. Layla has changed. She is a different girl in so many ways. In the last month of appointments every single doctor and therapist has talked about how happy she is, how content she is within her self and how she is not at all the same girl she was months ago. She has consistently been moving up. It's been such a sigh of relief. I have to fight off the scared feelings of thinking it'll just be a faze. That it cannot possibly last. But what if it does? What if she stays this happy the rest of her life? What if all our hard work, sleepless nights, tears and prayers are actually paying off?? 
It's a hard but delicious pill to swallow.
This year I'm imagining her sitting in her seat on more of an eye level with the other kids. I'm imagining her doing her full out belly laugh for people. I'm imagining her reaction to us all enjoying each other's company. She's recently become so reactive to kids toys, something we have never seen.
Yesterday I had a team of therapists over to work on adjustments for Layla's home equipment. They added a new arm sling for her to take away gravity so she can work easier at pressing buttons and pads. We're starting to look at ways she might learn to communicate in the future. They all loved seeing her reactions when she presses a switch and Olaf sings his song. He is her favourite toy right now. And I believe her reaction is not just the music playing, but also the fact she is so proud of what she is doing, on her own. It is so big. And I couldn't be more proud.
Oh the places she'll go.